Human

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Aug 2019
Historique:
received: 28 01 2019
accepted: 29 04 2019
entrez: 20 7 2019
pubmed: 20 7 2019
medline: 20 7 2019
Statut: epublish

Résumé

To map functional MRI (fMRI) connectivity within and between the somatosensory cortex, putamen, and ventral thalamus in individuals from a family with a GABAergic deficit segregating with febrile seizures and genetic generalized epilepsy. We studied 5 adults from a family with early-onset absence epilepsy and/or febrile seizures and a GABA We observed increased fMRI connectivity within the somatosensory cortex and between the putamen and ventral thalamus in all individuals with the Although our sample size was small, this preliminary study suggests that individuals with a

Identifiants

DOI: 10.1212/NXG.0000000000000340 PMID: 31321301 PMC: PMC6563517
pubmed: 31321301
doi: 10.1212/NXG.0000000000000340
pii: NG2019010082
pmc: PMC6563517
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e340

Références

J Neurosci. 2002 Feb 15;22(4):1480-95
pubmed: 11850474
Brain. 2003 Jan;126(Pt 1):230-40
pubmed: 12477709
J Neurosci. 2004 Jul 28;24(30):6816-25
pubmed: 15282287
Neuroimage. 2006 Sep;32(3):995-1000
pubmed: 16875845
Cereb Cortex. 2008 Mar;18(3):664-9
pubmed: 17615250
Proc Natl Acad Sci U S A. 2007 Oct 30;104(44):17536-41
pubmed: 17947380
Neurology. 2015 Mar 31;84(13):1308-16
pubmed: 25740860
Brain Connect. 2016 Apr;6(3):208-15
pubmed: 26537783
Neuroimage. 2017 Apr 1;149:53-62
pubmed: 28119136
Epilepsia. 2017 Apr;58(4):597-607
pubmed: 28195311

Auteurs

Mangor Pedersen (M)

The Florey Institute of Neuroscience and Mental Health (M.P., M.K., A.O., S.P., I.E.S., G.D.J.), Parkville; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville; Department of Neuroscience (P.P.), Central Clinical School, Monash University; Department of Neurology (P.P.), The Royal Melbourne Hospital, Parkville; Department of Neurology (P.P.), Alfred Health, Melbourne; Department of Medicine (P.P., S.P.), The Royal Melbourne Hospital, The University of Melbourne, Parkville; Epilepsy Research Centre (S.G., I.E.S., S.F.B., G.D.J.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; and Department of Pediatrics (I.E.S.), The University of Melbourne, Parkville, VIC, Australia.

Magdalena Kowalczyk (M)

The Florey Institute of Neuroscience and Mental Health (M.P., M.K., A.O., S.P., I.E.S., G.D.J.), Parkville; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville; Department of Neuroscience (P.P.), Central Clinical School, Monash University; Department of Neurology (P.P.), The Royal Melbourne Hospital, Parkville; Department of Neurology (P.P.), Alfred Health, Melbourne; Department of Medicine (P.P., S.P.), The Royal Melbourne Hospital, The University of Melbourne, Parkville; Epilepsy Research Centre (S.G., I.E.S., S.F.B., G.D.J.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; and Department of Pediatrics (I.E.S.), The University of Melbourne, Parkville, VIC, Australia.

Amir Omidvarnia (A)

The Florey Institute of Neuroscience and Mental Health (M.P., M.K., A.O., S.P., I.E.S., G.D.J.), Parkville; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville; Department of Neuroscience (P.P.), Central Clinical School, Monash University; Department of Neurology (P.P.), The Royal Melbourne Hospital, Parkville; Department of Neurology (P.P.), Alfred Health, Melbourne; Department of Medicine (P.P., S.P.), The Royal Melbourne Hospital, The University of Melbourne, Parkville; Epilepsy Research Centre (S.G., I.E.S., S.F.B., G.D.J.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; and Department of Pediatrics (I.E.S.), The University of Melbourne, Parkville, VIC, Australia.

Piero Perucca (P)

The Florey Institute of Neuroscience and Mental Health (M.P., M.K., A.O., S.P., I.E.S., G.D.J.), Parkville; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville; Department of Neuroscience (P.P.), Central Clinical School, Monash University; Department of Neurology (P.P.), The Royal Melbourne Hospital, Parkville; Department of Neurology (P.P.), Alfred Health, Melbourne; Department of Medicine (P.P., S.P.), The Royal Melbourne Hospital, The University of Melbourne, Parkville; Epilepsy Research Centre (S.G., I.E.S., S.F.B., G.D.J.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; and Department of Pediatrics (I.E.S.), The University of Melbourne, Parkville, VIC, Australia.

Samuel Gooley (S)

The Florey Institute of Neuroscience and Mental Health (M.P., M.K., A.O., S.P., I.E.S., G.D.J.), Parkville; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville; Department of Neuroscience (P.P.), Central Clinical School, Monash University; Department of Neurology (P.P.), The Royal Melbourne Hospital, Parkville; Department of Neurology (P.P.), Alfred Health, Melbourne; Department of Medicine (P.P., S.P.), The Royal Melbourne Hospital, The University of Melbourne, Parkville; Epilepsy Research Centre (S.G., I.E.S., S.F.B., G.D.J.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; and Department of Pediatrics (I.E.S.), The University of Melbourne, Parkville, VIC, Australia.

Steven Petrou (S)

The Florey Institute of Neuroscience and Mental Health (M.P., M.K., A.O., S.P., I.E.S., G.D.J.), Parkville; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville; Department of Neuroscience (P.P.), Central Clinical School, Monash University; Department of Neurology (P.P.), The Royal Melbourne Hospital, Parkville; Department of Neurology (P.P.), Alfred Health, Melbourne; Department of Medicine (P.P., S.P.), The Royal Melbourne Hospital, The University of Melbourne, Parkville; Epilepsy Research Centre (S.G., I.E.S., S.F.B., G.D.J.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; and Department of Pediatrics (I.E.S.), The University of Melbourne, Parkville, VIC, Australia.

Ingrid E Scheffer (IE)

The Florey Institute of Neuroscience and Mental Health (M.P., M.K., A.O., S.P., I.E.S., G.D.J.), Parkville; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville; Department of Neuroscience (P.P.), Central Clinical School, Monash University; Department of Neurology (P.P.), The Royal Melbourne Hospital, Parkville; Department of Neurology (P.P.), Alfred Health, Melbourne; Department of Medicine (P.P., S.P.), The Royal Melbourne Hospital, The University of Melbourne, Parkville; Epilepsy Research Centre (S.G., I.E.S., S.F.B., G.D.J.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; and Department of Pediatrics (I.E.S.), The University of Melbourne, Parkville, VIC, Australia.

Samuel F Berkovic (SF)

The Florey Institute of Neuroscience and Mental Health (M.P., M.K., A.O., S.P., I.E.S., G.D.J.), Parkville; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville; Department of Neuroscience (P.P.), Central Clinical School, Monash University; Department of Neurology (P.P.), The Royal Melbourne Hospital, Parkville; Department of Neurology (P.P.), Alfred Health, Melbourne; Department of Medicine (P.P., S.P.), The Royal Melbourne Hospital, The University of Melbourne, Parkville; Epilepsy Research Centre (S.G., I.E.S., S.F.B., G.D.J.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; and Department of Pediatrics (I.E.S.), The University of Melbourne, Parkville, VIC, Australia.

Graeme D Jackson (GD)

The Florey Institute of Neuroscience and Mental Health (M.P., M.K., A.O., S.P., I.E.S., G.D.J.), Parkville; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville; Department of Neuroscience (P.P.), Central Clinical School, Monash University; Department of Neurology (P.P.), The Royal Melbourne Hospital, Parkville; Department of Neurology (P.P.), Alfred Health, Melbourne; Department of Medicine (P.P., S.P.), The Royal Melbourne Hospital, The University of Melbourne, Parkville; Epilepsy Research Centre (S.G., I.E.S., S.F.B., G.D.J.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; and Department of Pediatrics (I.E.S.), The University of Melbourne, Parkville, VIC, Australia.

Classifications MeSH